RNF2, ring finger protein 2, 6045

N. diseases: 63; N. variants: 1
Disease: Angelman Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.020 Biomarker disease BEFREE We have shown that neuronal activity shifts the balance toward stabilization of Rnf2 through self-polyubiquitination rather than triggering its degradation through polyubiquitination by Ube3A, an E3 ligase implicated in Angelman Syndrome. 28890050 2017
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.020 AlteredExpression disease BEFREE Consistent with these findings, E6-AP knockout mice display an elevated level of Ring1B and ubiquitinated histone H2A in various tissues, including cerebellar Purkinje neurons, which may have implications to the pathogenesis of Angelman syndrome, a neurodevelopmental disorder caused by deficiency of E6-AP in the brain. 20351251 2010